Predominantly epithelial-type synovial sarcoma with overwhelming neuroendocrine differentiation: a potential diagnostic pitfall

Diagn Pathol. 2022 Jul 11;17(1):59. doi: 10.1186/s13000-022-01243-2.

Abstract

Background: Synovial sarcoma is an uncommon soft tissue tumor of soft tissue, characterized by a specific SS18 rearrangement. It generally manifests as a lesion composed of monomorphic spindle cells and sometimes shows variable epithelial differentiation. Epithelial-type synovial sarcoma is rare, and synovial sarcoma with overwhelming neuroendocrine differentiation has not been reported previously.

Case presentation: Here, we present a case of a young man with an epithelial-type synovial sarcoma of the right leg that showed an overwhelming neuroendocrine differentiation. The diagnosis was confirmed by the detection of targeted fusion re-arrangement associated with synovial sarcoma.

Conclusions: This study emphasizes the importance of molecular approaches in modern soft tissue pathology. Detecting the expression of neuroendocrine antigens in synovial sarcoma is a pre-requisite to avoid misdiagnosis of metastatic neuroendocrine tumor, malignant peripheral nerve sheath tumor with glandular differentiation, and carcinosarcoma.

Keywords: Epithelial-type; Neuroendocrine differentiation; Synovial sarcoma.

Publication types

  • Case Reports

MeSH terms

  • Biomarkers, Tumor / genetics
  • Biomarkers, Tumor / metabolism
  • Diagnostic Errors
  • Humans
  • Male
  • Sarcoma, Synovial* / diagnosis
  • Sarcoma, Synovial* / genetics
  • Sarcoma, Synovial* / metabolism
  • Soft Tissue Neoplasms* / diagnosis
  • Soft Tissue Neoplasms* / genetics
  • Soft Tissue Neoplasms* / metabolism

Substances

  • Biomarkers, Tumor